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Summary
JOUBERT SYNDROME 2
JBTS2
608091
OMIM = Online Medalian Inheritance of Men
2318
11q12.2
rare
autosomal recessive
symptoms
apnea
ataxia
blindness, visual loss, visual impairment
corpus callosum, agenesis/hypoplasia
dysmorphism
failure to thrive
genital hypoplasia
hypotonia
macrocephaly (large calvaria, >2 SD for age)
mental retardation
nystagmus
polydactyly
renal cysts
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
Literature
Balaji P,et al.An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduriaAnn Indian Acad Neurol17197-992014